| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | Biomarker | disease | BEFREE | Twelve single nucleotide polymorphisms (SNPs) within the adenomatous polyposis coli (APC) and receptor accessory protein (REEP5) genes were selected for genotyping using the GoldenGate genotyping assay. | 22795047 | 2013 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | In addition, allele-specific LOH at D5S346, D15S1005, and D15S120 was observed in multiple FAP adenomas (P < 0.01) and at D2S206 and D16S423 in multiple CRC (P < 0.05). | 16682279 | 2006 | ||||
|
0.080 | Biomarker | disease | BEFREE | Analysis of the APC-linked marker D5S346 showed that the parental alleles were fully informative. | 17169185 | 2006 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | A common progenitor haplotype spanned across APC I1307K from the centromeric marker D5S135 to the telomeric marker D5S346 and was observed in individuals of Ashkenazi, Sephardi, and Arab descent. | 14624392 | 2003 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. | 10482959 | 1999 | ||||
|
0.080 | Biomarker | disease | BEFREE | Marker D5S346, located 30 to 70 kilobases from the APC locus, showed evidence highly suggestive of linkage to the disease phenotype (lod score = 1.92). | 8208405 | 1994 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We screened DNA extracted from this specimen with dinucleotide repeat (CA/GT)n polymorphic marker (D5S346) linked to the adenomatous polyposis coli gene and established that the proband is at more than 99% risk of developing FAP. | 8276387 | 1993 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Linkage analysis using the short tandem repeat polymorphism D5S346 was performed to determine if juvenile polyposis was linked to either APC (adenomatous polyposis coli) or MCC (mutated in colorectal carcinoma) genes within a single large family. | 8224634 | 1993 |